Table 1.
Summary of expression patterns and loss-of-function phenotypes for each gene in previous studies and this study
| Gene symbol | Previous study | This F0 study | |||
|---|---|---|---|---|---|
| mRNA expression (ZFIN or PMID) | Tool | Results (PMID) | Phenotypes | Methods | |
| aars1 | Brain, eye, liver, pancreas, intestine, and muscle. (34872004) | Morpholino | Motor neuron defect (30124830) | Small brain and eyes, heart edema. Motor neuron defect. | Bright-field & Tg(olig2:DsRed2;mnx1:EGFP) |
| cars1 | Brain and eye (ZFIN and 34872004) | ENU | Homozygous mutant fish showed small eye and brain, heart edema (ZFIN) | Small brain and eyes, and heart edema. | Bright-field |
| gars1 | Brain, eye, liver, pancreas, intestine, otic vesicle, and skeletal muscle (34872004) | ENU | Mutants showed small eye and brain, muscle defect and heart edema. (27008886) | Small brain and eyes, and heart edema. | Bright-field |
| hars | Brain, eye, otic vesicle, liver, and skeletal muscle (31134197) | Morpholino | Knockdown embryos showed small eye and brain, and motor neuron defects. (31134197) | Small brain and eyes, and heart edema. | Bright-field |
| nars1 | Brain, eye, otic vesicle, liver, pancreas, and skeletal muscle (31134197) | – | – | Small brain and eyes, and heart edema. | Bright-field |
| qars1 | Brain, eye, liver, and skeletal muscles (34872004) | CRISPR/Cas9 | Homozygous mutant fish showed small eye and brain, and uncoordinated movement. (24656866) | Small brain and eyes, heart edema. Motor neuron defect. | Bright-field & Tg(olig2:DsRed2;mnx1:EGFP) |
| sars1 | Brain, eye, liver, and skeletal muscles (34872004) | ENU | Abnormal vascular development. (19423848, 19423847) | Small brain and eyes, heart edema. Motor neuron defect and abnormal vascular development. | Bright-field & Tg(olig2:DsRed2;mnx1:EGFP & Tg(kdrl:EGFP) |
| vars1 | Brain, eye, liver, intestine, and skeletal muscles (30755616) | CRISPR/Cas9 | Mutants showed small eye and brain, heart edema and seizure like behavior. (30755616) | Small brain and eyes, and heart edema. | Bright-field |
| MYHs (myha, myhc4, myhz1.1/1.2/1.3/2) | Muscles (17537787) | – | – | Short stature and curved body with muscular defect. | Bright-field & Phalloidin staining |
| slc25a4 | Skeletal muscles (ZFIN) | – | – | No obvious morphological abnormality. No obvious heart phenotype. Loosen muscular fibers. | Bright-field & Phalloidin staining |
| mdh2 | Brain, eye and skeletal muscle (ZFIN) | – | – | No obvious morphological abnormality. No obvious muscular structure abnormality. | Bright-field & Phalloidin staining |
| tpm1 | Heart and skeletal muscles (ZFIN) | – | – | Small brain and eyes, no swim bladder, heart defect. Small trunk with muscular defect. | Bright-field & Phalloidin staining |
| sdha | Brain, eye, liver and skeletal muscles (ZFIN) | – | – | Small brain and eyes. No swim bladder. Curved body with loosen muscular fibers. | Bright-field & Phalloidin staining |
| lonp1 | Brain, eye, otic vesicle, liver, intestine, and skeletal muscles (This study) | – | – | No obvious morphological abnormality. Aberrant muscular structure. | Bright-field & Phalloidin staining |
| cog1 | Brain ventricles and otic vesicle (This study) | – | – | Small head and eye. Aberrant craniofacial features. | Bright-field & Alcian blue staining & Tg(col2a1a:EGFP-CAAX). |
| mlip | Heart and skeletal muscles (ZFIN) | – | – | No obvious morphological abnormality. Enlarged heart. | Bright-field |
| setd2 | Brain (18231586) | CRISPR/Cas9 | Normal blood vessel development (33088589). Note: two sgRNA target sites in previous study, one at very beginning and another at very end of gene. | Abnormal vascular development. | Tg(kdrl:EGFP). |
| ipo8 | – | CRISPR/Cas9 | Dorsalization phenotype, cardiovascular and skeletal defects. (34010604) | No obvious morphological abnormality. No obvious muscular structure abnormality. Heart defect and abnormal vascular development. | Bright-field & Phalloidin staining & Tg(kdrl:EGFP) |
| naxe | – | ENU | Liver disease, increased Oil Red O staining. (25950913) | Liver disease | Oil Red O staining |
| etfa | Brain, eye, liver, and skeletal muscles (ZFIN) | ENU | Liver disease, increased Oil Red O staining. (25950913) | Liver disease | Oil Red O staining |
| agpat2 | Intestine (31950220) | – | – | Liver disease | Oil Red O staining |
| cyp4v8 | Liver and intestinal bulb (ZFIN) | CRISPR/Cas9 | Bietti crystalline dystrophy. (35616930) | Liver disease | Oil Red O staining |
| bscl2 | – | – | – | Liver disease | Oil Red O staining |
The mRNA expression patterns for each were obtained from published studies (PubMed ID provided) or Zebrafish Information Network, ZFIN (https://zfin.org/). Phenotypes from either morpholino knockdown or ENU (N-ethyl-N-nitrosourea) or CRISPR/Cas9-induced mutagenesis in zebrafish model from previous studies were summarized in the result column. The detailed descriptions of clinical features in humans and phenotypes in mouse knockouts for each gene were included in Supplementary Table S3.